Description of patient cohort
| Total No | LGMD | MM | PD | Stiffness | Symptomatic carrier | |
| No of patients (F/M) | 36 (18/18) | 22 | 11 | 1 | 1 | 1 |
| Clinical data available | 36 | 22 | 7 | 1 | 1 | 1 |
| Two mutations | 32 | 19 | 4 | 1 | 1 | – |
| One mutation | 3 | 3 | 7 | – | – | 1 |
| Muscle assessment available | 21 | 12 | 7 | – | 0 | 1 |
| WB available | 22 | 14 | 5 | – | 1 | 1 |
| IHC available | 25 | 17 | 5 | – | 1 | 1 |
IHC, immunohistochemistry; LGMD, limb girdle muscular dystrophy; MM; Miyoshi myopathy; PD, proximodistal; WB, western blot.